Evidence map›Paper›PMID 32864823›Full record

ArticleAmerican journal of medical genetics. Part C, Seminars in medical genetics2020

Introduction to the special issue on Ophthalmic Genetics: Vision in 2020.

Robert B Hufnagel, Michael A Walter, Gavin Arno

Abstract read
In one paragraph

Article in American journal of medical genetics. Part C, Seminars in medical genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

3 authors.

Robert B HufnagelNational Eye Institute, National Institutes of Health, Bethesda, Maryland, USA.ORCID 0000-0003-3015-3545
Michael A WalterDepartment of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada.ORCID 0000-0002-0567-0113
Gavin ArnoUniversity College London Institute of Ophthalmology, London, UK.ORCID 0000-0002-6165-7888

Funding

Genomic and epigenomic mechanisms of pediatric ocular disordersZIAEY000565 · NEI · NATIONAL EYE INSTITUTE · PI HUFNAGEL, ROBERT · 2019 to 2024
$11.4M
Clinical ophthalmic molecular diagnostics and discoveryZIAEY000564 · NEI · NATIONAL EYE INSTITUTE · PI GUAN, BIN · 2019 to 2025
$7.9M
Intramural NIH HHS ZIA EY000564Intramural NIH HHS ZIA EY000565
6 · The paper itself

Abstract

In this special issue of the American Journal of Medical Genetics, Part C, we explore the ever-expanding field of Ophthalmic Genetics. The eye is unique among organs for its accessibility to physical examination, permitting exploration of every tissue by slit lamp microscopy, ophthalmoscopy, and imaging including color and autofluorescent photography, ultrasound, optical coherence tomography (OCT), electrophysiology, and adaptive optics confocal and scanning laser ophthalmoscopy. This accessibility permits a variety of surgical and nonsurgical treatments, including the first FDA-approved gene therapy, voretigene neparvovec-rzyl for RPE65-associated Leber Congenital Amaurosis. In this issue, we sought to provide a survey highlighting how heritable ophthalmic disorders are recognizable and accessible to clinical geneticists as well as ophthalmologists.

Indexed as

Genetic TherapyEye DiseasesHumansOphthalmologyTomography, Optical Coherenceintroductionophthalmic geneticsspecial issue

Identifiers

PMID32864823
PMCPMC8117941

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.